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Results: 1-9 |
Results: 9
AN L-TYPE CALCIUM-CHANNEL GENE MUTATED IN INCOMPLETE X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS
Authors: STROM TM NYAKATURA G APFELSTEDTSYLLA E HELLEBRAND H LORENZ B WEBER BHF WUTZ K GUTWILLINGER N RUTHER K DRESCHER B SAUER C ZRENNER E MEITINGER T ROSENTHAL A MEINDL A
Citation: Tm. Strom et al., AN L-TYPE CALCIUM-CHANNEL GENE MUTATED IN INCOMPLETE X-LINKED CONGENITAL STATIONARY NIGHT BLINDNESS, Nature genetics, 19(3), 1998, pp. 260-263
SCREENING FOR FURTHER XLRP GENES IN SEQUENCE READY MAPS FROM XP21.1 AND XP11.23
Authors: MEINDL A BRANDAU O NYAKATURA G ACHATZ H HELLEBRAND H RAMSER J ROSS M ROSENTHAL A
Citation: A. Meindl et al., SCREENING FOR FURTHER XLRP GENES IN SEQUENCE READY MAPS FROM XP21.1 AND XP11.23, European journal of human genetics, 6, 1998, pp. 4174-4174
A GENE (RPGR) WITH HOMOLOGY TO THE RCC1 GUANINE-NUCLEOTIDE EXCHANGE FACTOR IS MUTATED IN X-LINKED RETINITIS-PIGMENTOSA (RP3)
Authors: MEINDL A DRY K HERRMANN K MANSON F CICCODICOLA A EDGAR A CARVALHO MRS ACHATZ H HELLEBRAND H LENNON A MIGLIACCIO C PORTER K ZRENNER E BIRD A JAY M LORENZ B WITTWER B DURSO M MEITINGER T WRIGHT A
Citation: A. Meindl et al., A GENE (RPGR) WITH HOMOLOGY TO THE RCC1 GUANINE-NUCLEOTIDE EXCHANGE FACTOR IS MUTATED IN X-LINKED RETINITIS-PIGMENTOSA (RP3), Nature genetics, 13(1), 1996, pp. 35-42
LONG-RANGE MAP OF A 3.5-MB REGION IN XP11.23-22 WITH A SEQUENCE-READYMAP FROM A 1.1-MB GENE-RICH INTERVAL
Authors: SCHINDELHAUER D HELLEBRAND H GRIMM L BADER I MEITINGER T WEHNERT M ROSS M MEINDL A
Citation: D. Schindelhauer et al., LONG-RANGE MAP OF A 3.5-MB REGION IN XP11.23-22 WITH A SEQUENCE-READYMAP FROM A 1.1-MB GENE-RICH INTERVAL, PCR methods and applications, 6(11), 1996, pp. 1056-1069
WISKOTT-ALDRICH SYNDROME - NO STRICT GENOTYPE-PHENOTYPE CORRELATIONS BUT CLUSTERING OF MISSENSE MUTATIONS IN THE AMINO-TERMINAL PART OF THEWASP GENE-PRODUCT
Authors: SCHINDELHAUER D WEISS M HELLEBRAND H GOLLA A HERGERSBERG M SEGER R BELOHRADSKY BH MEINDL A
Citation: D. Schindelhauer et al., WISKOTT-ALDRICH SYNDROME - NO STRICT GENOTYPE-PHENOTYPE CORRELATIONS BUT CLUSTERING OF MISSENSE MUTATIONS IN THE AMINO-TERMINAL PART OF THEWASP GENE-PRODUCT, Human genetics, 98(1), 1996, pp. 68-76
MISSENSE MUTATIONS IN THE NDP GENE IN PATIENTS WITH A LESS SEVERE COURSE OF NORRIE DISEASE
Authors: MEINDL A LORENZ B ACHATZ H HELLEBRAND H SCHMITZVALCKENBERG P MEITINGER T
Citation: A. Meindl et al., MISSENSE MUTATIONS IN THE NDP GENE IN PATIENTS WITH A LESS SEVERE COURSE OF NORRIE DISEASE, Human molecular genetics, 4(3), 1995, pp. 489-490
GENOTYPE AND PHENOTYPE CORRELATIONS IN WISKOTT-ALDRICH SYNDROME - VARIABLE EXPRESSION OR MUTATION DEPENDENT PHENOTYPES
Authors: SCHINDELHAUER D WEISS M HELLEBRAND H HERGERSBERG M SEGER R BELOHRADSKY BH MEINDL A
Citation: D. Schindelhauer et al., GENOTYPE AND PHENOTYPE CORRELATIONS IN WISKOTT-ALDRICH SYNDROME - VARIABLE EXPRESSION OR MUTATION DEPENDENT PHENOTYPES, American journal of human genetics, 57(4), 1995, pp. 1451-1451
A PATIENT WITH AN INTERSTITIAL DELETION IN XP22.3 LOCATES THE GENE FOR X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA TO WITHIN A ONE MEGABASE INTERVAL
Authors: KLINK A MEINDL A HELLEBRAND H RAPPOLD GA
Citation: A. Klink et al., A PATIENT WITH AN INTERSTITIAL DELETION IN XP22.3 LOCATES THE GENE FOR X-LINKED RECESSIVE CHONDRODYSPLASIA PUNCTATA TO WITHIN A ONE MEGABASE INTERVAL, Human genetics, 93(4), 1994, pp. 463-466
TOWARDS THE CLONING OF THE WAS-GENE LOCUS - LINKAGE AND PHYSICAL MAPPING
Authors: MEINDL A SCHINDELHAUER D HELLEBRAND H HERGERSBERG M ROSS M MONACO AP MEITINGER T
Citation: A. Meindl et al., TOWARDS THE CLONING OF THE WAS-GENE LOCUS - LINKAGE AND PHYSICAL MAPPING, Cytogenetics and cell genetics, 67(4), 1994, pp. 343-343
Risultati: 1-9 |